ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180367
Gene: RD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167572
ClinVar RCV Id:
RCV000153816
RCV000877817
RCV003416004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898882.1:p.Arg47Cys
CA180366
NM_183059.2:c.139C>T